Gene entry
TMEM43
transmembrane protein 43
- Chromosome
- 3
- Cytoband
- 3p25.1
- Variants (rsID)
- 31
TMEM43 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p25.1). Its official name is “transmembrane protein 43”. The reference table lists 31 variants (rsID) for this gene.
Clinically classified variants
28 reference-table entries with clinical significance.
- rs113449357Benignsingle nucleotide variantCardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 5
- rs114026215Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 5
- rs11924644Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Sudden cardiac arrest|Arrhythmogenic right ventricular dysplasia 5
- rs144152046Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Cardiomyopathy
- rs149883381Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Cardiovascular phenotype|Cardiomyopathy
- rs17038942Benignsingle nucleotide variant
- rs2228001Benignsingle nucleotide variantXeroderma pigmentosum|Arrhythmogenic right ventricular cardiomyopathy|Xeroderma pigmentosum, group C
- rs2733580Benignsingle nucleotide variant
- rs34099410Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Cardiovascular phenotype|Cardiomyopathy
- rs35028636Benignsingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
- rs35924492Benignsingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Sudden cardiac arrest|Arrhythmogenic right ventricular dysplasia 5
- rs3796308Benignsingle nucleotide variantXeroderma pigmentosum|Arrhythmogenic right ventricular cardiomyopathy
- rs4685074Benignsingle nucleotide variant
- rs116911972Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 5
- rs144811578Conflicting interpretationssingle nucleotide variantEmery-Dreifuss muscular dystrophy 7, autosomal dominant|Arrhythmogenic right ventricular dysplasia 5|Cardiovascular phenotype|Cardiomyopathy
- rs145619906Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 5|Cardiomyopathy
- rs151010429Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
- rs182351748Conflicting interpretationssingle nucleotide variantCardiomyopathy|Arrhythmogenic right ventricular dysplasia 5
- rs192707412Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy
- rs201138253Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Cardiomyopathy
- rs767916602Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 5
- rs794729179Conflicting interpretationssingle nucleotide variantArrhythmogenic right ventricular dysplasia 5
- rs187262922Likely benignsingle nucleotide variantCardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 5|Cardiomyopathy
- rs397514044Pathogenicsingle nucleotide variantEmery-Dreifuss muscular dystrophy 7, autosomal dominant
- rs63750743Pathogenicsingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Arrhythmogenic right ventricular cardiomyopathy|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Primary dilated cardiomyopathy
- rs193922706Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Cardiomyopathy
- rs199526104Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 5|Cardiomyopathy
- rs376589026Uncertain significancesingle nucleotide variantArrhythmogenic right ventricular dysplasia 5
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.